Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).

Monosomy 18q 12.1→21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature

“…The similarity of craniofacial abnormalities in our patient and the published photographs of the younger previously reported patients (patients 8, Wilson et al [19791;111-10, Chudley et al 19741; the patient reported by Wilson and A1 Saadi [1989]; and the male recently reported by Chudley et al [19911) is striking. These individuals have a tall forehead, flattened nasal bridge, relatively long and widely grooved philtrum, short nose with small columella, and a small "carp-shape" mouth.…”

“…The patient described by Wilson et al [19791, like our patient, had a de novo deletion which is probably more comparable in size to our patient's deletion. Wilson and A1 Saadi (1989) reported one patient and Schinzel et al [1991] reported 3 patients with smaller de novo dele- tions of 18q12.3. The male patient described by Chudley et a:.…”

“…A review of the literature yielded 11 additional reported patients [Chudley et al, 1974[Chudley et al, ,1991Wilson et al, 1979;Wilson and Lin, 1988;Wilson and A1 Saadi, 1989;Schinzel et al, 19911 with a striking resemblance to patient 8 described by Wilson et al [1979]. The craniofacial abnormalities and dermatoglyphic findings form a distinct and recognizable syndromal pattern.…”

Psychiatric syndromes in individuals with chromosome 18 abnormalities

“…Mental retardation is found in case reports of all three abnormalities (18p-, 18q-, and 18p tetrasomy), and in one study was estimated at 68% of all 18q deletion subjects [Semrud-Clikeman et al, 2005]. Abnormal EEG findings and epilepsy have been described in case reports for all three chromosomal disorders [Chudley et al, 1974;Wilson et al, 1979;Wilson and Al Saadi, 1989;Schinzel et al, 1991;Chudley et al, 1992;Krasikov et al, 1992;Poissonnier et al, 1992;Engelen et al, 1998;Tinkle et al, 2003;Linnankivi et al, 2006;Swingle et al, 2006;Brenk et al, 2007;Cody et al, 2007]. Many subjects with 18p or 18q deletions display delayed speech, mutism, or articulation difficulties [Thompson et al, 1986;Poissonnier et al, 1992;Grosso et al, 1999;Babovic-Vuksanovic et al, 2004;Wester et al, 2006;Brenk et al, 2007;Cody et al, 2007] and there has been one report of short Neuropsychiatric Genetics attention span in three out of three 18p-subjects [Thompson et al, 1986].…”

“…In studies of persons with chromosome 18p-deletions, there have been reports of two persons with autism [Ghaziuddin et al, 1993;Wester et al, 2006], and one person with paranoid psychosis, depression, and subclinical obsessive compulsive disorder [Babovic-Vuksanovic et al, 2004]. In studies of 18q-syndromes, there have been individual reports of autistic features in 8 subjects [Wilson and Al Saadi, 1989;Schinzel et al, 1991;Poissonnier et al, 1992;Mahr et al, 1996;Tinkle, 2003;Linnankivi et al, 2006], attention deficit and/or hyperactivity disorder in 6 subjects [Surh et al, 1991;Chudley et al, 1992;Mahr et al, 1996;McEntagart et al, 2001;Tinkle, 2003;Cody et al, 2007], and violent/aggressive behaviors have been reported in 14 subjects [Chudley et al, 1974;Wilson and Al Saadi, 1989;Poissonnier et al, 1992;Mahr et al, 1996;McEntagart et al, 2001;Tinkle, 2003]. There is only one report of a behavioral/psychiatric problem in a case of chromosome 18p tetrasomy; an individual who had a history of aggressive, selfinjurious, and destructive behavior [Swingle et al, 2006].…”